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Kaufman oculocerebrofacial syndrome

Kaufman oculocerebrofacial syndrome: Introduction

Kaufman oculocerebrofacial syndrome: A rare syndrome characterized by a small head, narrow face, eye anomalies, severe mental retardation and long thin hands and feet. The disorder is recessively inherited. More detailed information about the symptoms, causes, and treatments of Kaufman oculocerebrofacial syndrome is available below.

Symptoms of Kaufman oculocerebrofacial syndrome

Home Diagnostic Testing

Home medical testing related to Kaufman oculocerebrofacial syndrome:

Wrongly Diagnosed with Kaufman oculocerebrofacial syndrome?

Kaufman oculocerebrofacial syndrome: Related Patient Stories

Causes of Kaufman oculocerebrofacial syndrome

Read more about causes of Kaufman oculocerebrofacial syndrome.

Less Common Symptoms of Kaufman oculocerebrofacial syndrome

Kaufman oculocerebrofacial syndrome: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Kaufman oculocerebrofacial syndrome

Mild worm infections undiagnosed in children: Human worm infestations, esp. threadworm, can be overlooked in some cases, because it may cause only mild or even absent symptoms. Although the most common...read more »

Undiagnosed stroke leads to misdiagnosed aphasia: BBC News UK reported on a man who had been institutionalized and treated for mental illness because he suffered from sudden inability to...read more »

Dementia may be a drug interaction: A common scenario in aged care is for a patient to show mental decline to dementia. Whereas this can, of course, occur due to various medical...read more »

Mesenteric adenitis misdiagnosed as appendicitis in children: Because appendicitis is one of the more feared conditions for a child with abdominal pain, it can be over...read more »

Leg cramps at night a classic sign: The symptom of having leg muscle cramps, particularly at night, is a classic sign of undiagnosed diabetes....read more »

Blood pressure cuffs misdiagnose hypertension in children: One known misdiagnosis issue with hyperension, arises in relation to the simple equipment used to test blood pressure. The "cuff"...read more »

Mild traumatic brain injury often remains undiagnosed: Although the symptoms of severe brain injury are hard to miss, it is less clear for milder injuries, or...read more »

MTBI misdiagnosed as balance problem: When a person has symptoms such as vertigo or dizziness, a diagnosis of brain injury may go overlooked. This is particularly true of mild traumatic brain...read more »

Brain pressure condition often misdiagnosed as dementia: A condition that results from an excessive pressure of CSF within the brain is often misdiagnosed. It may be misdiagnosed as Parkinson's disease or dementia (such as Alzheimer...read more »

Post-concussive brain injury often misdiagnosed: A study found that soldiers who had suffered a concussive injury in battle often were misdiagnosed on their return. A variety of symptoms can occur in post-concussion...read more »

Children with migraine often misdiagnosed: A migraine often fails to be correctly diagnosed in pediatric patients. These patients are not the typical migraine sufferers, but migraines can also occur in children. See ...read more »

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as multiple sclerosis (see symptoms...read more »

Kaufman oculocerebrofacial syndrome: Research Doctors & Specialists

Research related physicians and medical specialists:

Other doctor, physician and specialist research services:

Hospitals & Clinics: Kaufman oculocerebrofacial syndrome

Research quality ratings and patient safety measures for medical facilities in specialties related to Kaufman oculocerebrofacial syndrome:

Choosing the Best Hospital: More general information, not necessarily in relation to Kaufman oculocerebrofacial syndrome, on hospital performance and surgical care quality:

Kaufman oculocerebrofacial syndrome: Rare Types

Rare types of diseases and disorders in related medical categories:

Kaufman oculocerebrofacial syndrome: Animations

Statistics for Kaufman oculocerebrofacial syndrome

Kaufman oculocerebrofacial syndrome: Broader Related Topics

User Interactive Forums

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Definitions of Kaufman oculocerebrofacial syndrome:

Kaufman oculocerebrofacial syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Kaufman oculocerebrofacial syndrome, or a subtype of Kaufman oculocerebrofacial syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Kaufman oculocerebrofacial syndrome as a "rare disease".
Source - Orphanet

 

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